International Genetics and Genomics of Diseases

Kids with Down syndrome can live 'abundant lives,' dad tells Fox News contributor Fox News contributor Tom Shillue speaks to the dad of a child with Down syndrome on World Down Syndrome Day. Each year on March 21, World Down Syndrome Day (WDSD) marks a global day of awareness and education about the genetic condition. The goal is to "help people understand and support those with Down syndrome better," according to the initiative's website. WDSD has been officially observed by the United Nations since 2012. On Friday, Fox News contributor Tom Shillue headed to Times Square in New York City to speak with New Yorkers about their awareness of WDSD. (See the video at the top of this article.) Shillue spoke with Daniel Schreck, chairman of the Jérôme Lejeune Foundation, a global nonprofit focused on research and advocacy for people with genetic intellectual disabilities . Schreck also has a daughter with Down syndrome. When asked about common fears or misunderstanding...

The contribution of de novo coding mutations to meningomyelocele Meningomyelocele ( also known as spina bifida ) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele . Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based pr...

Healthcare startups to see surge in M&A as funding dries up Healthcare startups are set for increased mergers and acquisitions in 2025, driven by cash-strapped firms, declining revenue multiples, and investor caution, particularly in diagnostics and care delivery. Healthcare startups are poised for increased mergers and acquisitions (M&A) in the current calendar year as revenue multiples decline and cash-strapped firms struggle in a tight funding market , according to early-stage healthcare-focused investment firm W Health Ventures. The consolidation wave is expected to be most pronounced in diagnostics, where large pathology chains are likely to acquire smaller, hyperlocal labs and radiology centres to expand their geographic reach. Care delivery companies specialising in single fields such as IVF, eyecare, and oncology may also see exits, with promoters selling to private equity-backed platforms, said Namit Chugh, principal at W Health Ventures. Investor caution has left many...

How chromosomes shape up for cell division Among the many marvels of life is the cell’s ability to divide and thus enable organisms to grow and renew themselves. For this, the cell must duplicate its DNA – its genome – and segregate it equally into two new daughter cells. To prepare the 46 chromosomes of a human cell for transport to the daughter cells during cell division, each chromosome forms a compact X-shaped structure with two rod-like copies. How the cell achieves this feat remains largely unknown. Now, for the first time, EMBL scientists have directly observed this process in high resolution under the microscope using a new chromatin tracing method. The new study shows that the long DNA molecules of each chromosome form a series of overlapping loops during cell division that repel each other. As a result of this repulsion, the DNA loops then stack up to form rod-shaped chromosomes. Tracing chromosomal DNA in high resolution Scientists have long hypothesised the importance of DN...

Delivering genomics-based cancer care for every community Genomics has the power to transform cancer care, but only if it is implemented equitably and inclusively. Australia has the world’s best cancer outcomes, but certain populations — including Aboriginal and Torres Strait Islander people, those living in rural and remote areas, culturally and linguistically diverse groups, and people with rare cancers — do not share this experience and have limited access to cutting-edge technologies. Addressing these disparities requires a multifaceted approach. Recognising the critical importance of genomics in cancer care, the Australian Government launched the National Framework for Genomics in Cancer Control in February 2025 as a key action of the Australian Cancer Plan . The vision of this framework is clear: to integrate cancer genomics into routine clinical practice as the standard of care while ensuring accessibility, cultural safety and equity across the cancer care continuum. Together w...

Genomics: how unlocking our genes is transforming healthcare Genomics is revolutionising modern medicine. From improving cancer treatments to predicting diseases using genetic information, here are four ways our health is benefitting from genomics. Genomics has fundamentally changed how we understand health and disease. It has made incredible advances in medicine possible, allowing us to treat diseases at a genetic level and offering more personalised treatments. This progress has not come without challenges. For example, many questions and concerns have emerged around the ethical, legal and societal contexts of genomics research. These must be openly discussed and researched so that, ultimately, everyone can feel the positive impacts of genomics research on their health. As genomics research improves to meaningfully include everyone everywhere, we are likely to see more breakthroughs that will have implications for health. But what impact has genomics made on health so far? What ...

Genetic study reveals hidden chapter in human evolution Modern humans descended from not one, but at least two ancestral populations that drifted apart and later reconnected, long before modern humans spread across the globe. Using advanced analysis based on full genome sequences, researchers from the University of Cambridge have found evidence that modern humans are the result of a genetic mixing event between two ancient populations that diverged around 1.5 million years ago. About 300,000 years ago, these groups came back together, with one group contributing 80% of the genetic makeup of modern humans and the other contributing 20%. For the last two decades, the prevailing view in human evolutionary genetics has been that Homo sapiens first appeared in Africa around 200,000 to 300,000 years ago, and descended from a single lineage. However, these latest results , reported in the journal Nature Genetics, suggest a more complex story. "The question of where we come from is one t...

SpeciCare Revolutionizes Cancer Treatment with Tumor Cryopreservation and Gene Mapping SpeciCare cryopreserves tumor tissue, enabling expanded therapy testing and empowering patients with personalized, future-ready treatment opportunities. GAINESVILLE, GA, UNITED STATES, March 17, 2025 /EINPresswire.com/ -- SpeciCare, a pioneering healthcare company, is transforming cancer treatment by offering patients the ability to cryopreserve their tumor tissue for advanced genomic assays and more specific personalized therapies. Founded by a group of oncology specialists and advanced clinical researchers, SpeciCare aims to move beyond traditionally mass-administered cancer treatments to provide more effective individualized cancer care. For decades, cancer treatment has relied on outdated tumor storage methods that provide limited views of the affected tissue—like trying to solve a city’s traffic crisis using a single aerial snapshot. But what if researchers had a live traffic feed instead? That...

Scientists Solve One of Genomics’ Biggest Challenges by Using HiFi Sequencing to Distinguish Highly Similar Paralogous Genes MENLO PARK, Calif., March 17, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of high-quality, highly accurate sequencing platforms, today announced a newly published study in Nature Communications unveiling a powerful new method for analyzing some of the most complex regions of the human genome. Led by researchers from PacBio, GeneDx, and a global consortium of genomics experts, the study utilizes Paraphase , an informatics tool that, when paired with HiFi long-read sequencing, allows for high-precision variant detection and copy number analysis in 316 previously inaccessible segmental duplication regions, including 9 challenging medically-relevant genes. Segmental duplications (SDs) are highly similar, duplicated regions of the genome that have posed persistent challenges for genetic analysis. These regions contain hundreds of genes critical...

Improving Gene Editing in the Liver Technique shows promise for treating genetic diseases that require correction or replacement of defective genes in the liver. Advances in genome editing have raised hopes for curing a wide range of disorders caused by single genetic mutations. Hundreds of such conditions could potentially be treated by correcting disease-causing genes in the liver alone. Cells in the liver can be easily reached by gene editing tools. Early studies that used gene editing to shut down the activity of genes in the liver have shown promise. But many more disorders are caused by defective genes that need to be repaired to restore normal function. A gene editing approach called homology-directed repair can potentially replace parts or all of a defective gene. But this technique requires actively dividing cells to work. A research team led by Drs. William Lagor from Baylor College of Medicine and Gang Bao from Rice University have been developing a homology-directed repair ...

The fertility crash comes down to what men are doing-or not doing-Nobel laureate says Falling fertility rates around the world have alarmed governments, tech execs like Elon Musk, and economists. While numerous policies and financial incentives have been employed, few have been proven to reliably boost fertility. But a new study from Nobel Prize–winning economist Claudia Goldin points to the extra hours women spend on child-rearing and household chores compared with men. She found that was a major difference between countries with low fertility and those with even lower rates, or the “lowest-low” nations. In Sweden, for example, women spend just 0.8 hours more than men each day around the house, and the country’s fertility rate is 1.7 kids per family. And in Denmark, where women work 0.9 hours extra, the fertility rate is also 1.7. To be sure, both rates are below the so-called replacement rate of 2.1 kids per family, which is needed for a country to maintain a stable populat...

Sexual reproduction in plants under high temperature and drought stress Climate-change-induced extreme heat and drought increasingly threaten plant growth and development, with a particularly significant impact on sexual reproduction. Heat and drought stress can disrupt key stages of plant sexual reproduction, including flowering time, gametophyte development, pollination, and seed formation, leading to infertility and substantial yield reductions in crops. This review systematically summarizes the latest research on the effects of heat and drought stress on various stages of plant sexual reproduction and proposes specific strategies to mitigate the agricultural hazards posed by these stresses. By providing an in-depth analysis of the underlying mechanisms and regulatory networks, this review offers a theoretical basis for advancing fundamental research and optimizing agricultural practices to address the severe challenges climate change presents to agriculture. Sexual reproduction, fe...

Machine learning analysis of integrated ABP and PPG signals towards early detection of coronary artery disease Every year, Coronary Artery Disease (CAD) claims lives of over a million people. CAD occurs when the coronary arteries, responsible for supplying oxygenated blood to the heart, get occluded due to plaque deposits on their inner walls. The most critical fact about this disease is that it develops gradually over the years and by the time symptomatic changes such as angina or shortness of breath appear, the disease has already become severe. The overall aim of the proposed work is to detect CAD efficiently in its early stage while utilizing (radial) arterial blood pressure (ABP) along with photoplethysmogram (PPG) signals so that necessary clinical measures may be taken timely. To achieve this objective, firstly, ABP and PPG data of 73 CAD and 64 non-CAD (not suffering from any cardiac condition) subjects have been collected from MIMIC-II waveform database with matched subset. Se...

Mutated DNA Restored to Normal in Gene Therapy Advance The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely targeted infusions. Researchers have corrected a disease-causing gene mutation with a single infusion carrying a treatment that precisely targeted the errant gene. This was the first time a mutated gene has been restored to normal. The small study of nine patients announced Monday by the company Beam Therapeutics of Cambridge, Mass., involved fixing a spelling error involving the four base sequences — G, A, C and T — in DNA. The effect was to change an incorrect DNA letter to the right one. The result was a normal gene that functioned as it should, potentially halting liver and lung damage of patients with a rare disorder. “This is the beginning of a new era of medicine,” said Dr. Kiran Musunuru, a gene therapy researcher at the University of Pennsylvania’s Perelman School of Medicine. He added that the met...